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Turner syndrome

Background

Overview

Definition
TS is a genetic disorder that affects females, characterized by the partial or complete absence of one X chromosome.
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Pathophysiology
The absence of one X chromosome leads to a range of physical and developmental abnormalities.
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Epidemiology
The prevalence of TS is estimated at 7.62 per 100,000 population worldwide.
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Risk factors
Risk factors for TS are not fully understood, as the exact cause of the chromosomal remains unclear. Advanced maternal age has not been proven to be a risk factor for TS.
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Disease course
TS is associated with a range of clinical features and complications, including short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, and infertility. Other associated medical complications include congenital malformations of the heart, endocrine disorders such as T1DM and T2DM, osteoporosis, and autoimmune disorders. It can present with various symptoms and complications at different stages of life, necessitating a multidisciplinary approach to care.
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Prognosis and risk of recurrence
The prognosis is variable and depends on the severity of symptoms and the presence of associated conditions. While TS is a lifelong condition, with appropriate medical management and support, patients can lead normal and fulfilling lives.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of Turner syndrome are prepared by our editorial team based on guidelines from the European Society of Cardiology (ESC 2024), the European Society of Endocrinology (ESE/PES 2024), and the American Heart Association (AHA/ACC 2022).
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Screening and diagnosis

Indications for screening: as per ESE/PES 2024 guidelines, consider taking into account ethical issues, phenotypic variability, methodological limitations, and the feasibility of appropriate genetic counseling before adopting newborn screening programs to identify TS.
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  • Prenatal testing

  • Diagnostic criteria

Diagnostic investigations

Karyotyping: as per ESE/PES 2024 guidelines, test for TS in female patients with typical signs of TS.
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  • Cardiac imaging

  • ECG

  • Evaluation for congenital heart disease

  • Evaluation for congenital renal anomalies

  • Evaluation for skeletal abnormalities

Medical management

General principles: as per ESE/PES 2024 guidelines, provide care to all patients with TS by specialists with expertise in genetics (and/or genetic counseling), cardiology, endocrinology, reproductive medicine, audiology/otolaryngology, ophthalmology, neurodevelopment, and mental health. Involve additional subspecialists as needed, such as dermatology, gastroenterology, nephrology, orthopedics, podiatry, nutrition, and speech/occupational/physical therapy.
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  • GH (indications and dosage)

  • GH (assessment of treatment response)

  • Female sex hormones (pretreatment evaluation)

  • Female sex hormones (estrogen)

  • Female sex hormones (progesterone)

  • Female sex hormones (adult patients)

  • Female sex hormones (assessment of treatment response)

  • Management of hypertension

  • Management of lymphedema

Nonpharmacologic interventions

Physical activity restrictions: as per ESE/PES 2024 guidelines, advise regular aerobic physical activities as part of a heart-healthy lifestyle in all patients with TS.
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  • Psychosocial care

Therapeutic procedures

Fertility preservation: as per ESE/PES 2024 guidelines, obtain a thorough cardiac screening and provide appropriate counseling by a maternal-fetal medicine specialist and a cardiologist with expertise in managing patients with TS before planning a pregnancy, especially if oocyte or embryo donation is considered.
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Surgical interventions

Aortic aneurysm repair
As per ESC 2024 guidelines:
Consider performing elective surgery for aneurysms of the aortic root and/ or ascending aorta in ≥ 15 years of age patients with TS with an ascending aortic size index > 23 mm/m², an aortic height index > 23 mm/m, a z-score > 3.5, and associated risk factors for aortic dissection or planning pregnancy.
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Consider performing elective surgery for aneurysms of the aortic root and/ or ascending aorta in ≥ 15 years of age patients with TS with ascending aortic size index > 25 mm/m², an aortic height index > 25 mm/m, a z-score > 4, and not having associated risk factors for aortic dissection.
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  • Gonadectomy

Specific circumstances

Infants: as per ESE/PES 2024 guidelines, perform delivery of a fetus with known or suspected TS in a facility equipped to provide neonatal care.
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  • Transition from pediatric to adult care

  • Pregnant patients (preconception care)

  • Pregnant patients (monitoring during pregnancy)

  • Pregnant patients (peripartum care)

Patient education

Support plan: as per ESE/PES 2024 guidelines, prepare a support plan to empower patients and their caregivers in advocating for all necessary supports outside the medical environment (such as schools and community), to achieve optimal educational and socioemotional development.
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  • Fertility counseling

Follow-up and surveillance

Ovarian function monitoring: as per ESE/PES 2024 guidelines, obtain LH, FSH, and anti-Müllerian hormone measurements at 8-9 years and annually until 11-12 years to enable timely referral for fertility preservation if appropriate.
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  • Cardiac imaging follow-up

  • Cardiometabolic surveillance

  • Ophthalmologic surveillance

  • Otologic surveillance

  • Bone health surveillance

  • Dental surveillance

  • Liver damage surveillance

  • Dermatologic surveillance

  • Oncologic surveillance

  • Surveillance for anemia

  • Surveillance for autoimmune disorders